ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1115A>G (p.Glu372Gly)

gnomAD frequency: 0.00001  dbSNP: rs762845761
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001070610 SCV001235871 uncertain significance Fanconi anemia 2020-02-11 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 372 of the FANCM protein (p.Glu372Gly). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is present in population databases (rs762845761, ExAC 0.001%). This variant has not been reported in the literature in individuals with FANCM-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001772305 SCV002003219 uncertain significance not provided 2024-11-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002489710 SCV002776340 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2022-04-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004738154 SCV005356693 uncertain significance FANCM-related disorder 2024-06-10 no assertion criteria provided clinical testing The FANCM c.1115A>G variant is predicted to result in the amino acid substitution p.Glu372Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD and interpreted as a variant of uncertain significance in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/863609/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.